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Cytogenetic / Clinical Entities

Table of Content

1. Chronic Myeloproliferative Diseases (MPD)

+13 or trisomy 13
+14 or trisomy 14 (solely)
+16 or trisomy 16 (solely)
+20 or trisomy 20 (solely)
+6 or trisomy 6
+8 or trisomy 8
+9 or trisomy 9
-21 or monosomy 21 (solely)
15q13-15 Rearrangements
1q translocations (unbalanced) in myeloid malignancies
1q triplication in hematologic malignancies
3q26 rearrangements (MECOM) in myeloid malignancies
8p11 myeloproliferative syndrome (FGFR1)
Agnogenic myeloid metaplasia
Atypical Chronic Myeloid Leukemia (aCML)
Chronic myelogenous leukaemia (CML)
Essential Thrombocythemia (ET)
Idiopathic myelofibrosis
Isolated tetrasomy 8 in AML, MDS and MPD
Juvenile Chronic Myelogenous Leukemia (JCML)
Monosomal karyotype (MK) in myeloid malignancies
Myelofibrosis with Myeloid Metaplasia (MMM)
Polycythemia Vera (PV)
Unbalanced whole-arm translocation der(1;10)(q10-q11;p10-p12)
Unbalanced whole-arm translocation der(1;13) in hematologic malignancies
Y loss in leukemia
del (13q)
del(12)(q24q24) SETD1B/GTF2H3
del(13q) in myeloid malignancies
del(16)(q22) CBFB/MYH11
del(20q) in myeloid malignancies
del(9q) solely
der(11)t(1;11)(q11-23;q14-25)
der(1;14)(p10 or q10;p10 or q10)
der(1;7)(q10;p10)
der(1;9)(q10;p10)
der(20)t(1;20)(q10-21;q11-13)
der(5)t(1;5)(q12-q25;q13-q35)
der(6)t(1;6)(q21-23;p21)
der(9)t(1;9)(q11-12;q34)
der(9)t(1;9)(q12;q12)
der(9;18)(p10;q10)
dic(1;15)(p11;p11)
i(17q) solely in myeloid malignancies
idic(X)(q13)
ins(12;8)(p11;p12p22) FGFR1OP2/FGFR1
ins(12;8)(p13;q11q21) ETV6/LYN
ins(3;3)(q26;q21q26) RPN1/MECOM
ins(9;4)(q33;q12q25) CDK5RAP2/PDGFRA
inv(11)(p15q22) NUP98/DDX10
inv(16)(p13q22) CBFB/MYH11
inv(3)(p12q26) ?/MECOM
inv(3)(q21q26) RPN1/MECOM
inv(3)(q23q26) ?/MECOM
t(10;12)(q24;p13) ETV6/GOT1
t(11;11)(p15;q22) NUP98/DDX10
t(11;21)(q13;q22) RUNX1/MACROD1
t(11;22)(q13;q13) HRASLS5/PHF21B
t(12;13)(p12;q12-14) ETV6/CDX2
t(12;13)(p13;q12) ETV6/FLT3
t(12;13)(p13;q14) LIN00598/ETV6
t(12;22)(p13;q12) MN1/ETV6
t(16;16)(p13;q22) CBFB/MYH11
t(1;12)(p36;p13) ETV6/MDS2
t(1;12)(q21;p13) ETV6/ARNT
t(1;18)(q10;q10)
t(1;19)(p13;p13.1)
t(1;3)(p36;p21)
t(1;3)(p36;q21) PSMD2/PRDM16
t(1;5)(q22;q33) PDE4DIP/PDGFRB
t(2;11)(q31;p15) NUP98/HOXD11
t(2;11)(q31;p15) NUP98/HOXD13
t(2;13)(p16;q12) SPTBN1/FLT3
t(2;3)(p15-23;q26-27) ?/MECOM
t(2;4)(p22;q12) STRN/PDGFRA
t(2;4)(p23;q25-q35)
t(2;5)(p21;q33) SPTBN1/PDGFRB
t(3;11)(q26;p15) ?/MECOM
t(3;12)(q26;p13) ETV6/EVI1
t(3;12)(q26;p13) ETV6/MECOM
t(3;17)(q26;q22) ?/MECOM
t(3;21)(q26;q22) RUNX1/MECOM
t(3;3)(q21;q26) RPN1/MECOM
t(3;5)(q21;q31)
t(3;5)(q25;q34) NPM1/MLF1
t(3;7)(q26;q21) MECOM/CDK6
t(4;10)(q12;p11) KIF5B/PDGFRA
t(4;10)(q12;q23) PDGFRA/TNKS2
t(4;12)(q12;p13) PDGFRA/ETV6
t(4;17)(q12;q21) FIP1L1/RARA
t(4;21)(q35;q22) RUNX1/?
t(4;22)(q12;q11) BCR/PDGFRA
t(4;5)(q21;q33) PRKG2/PDGFRB
t(5;10)(q33;q21) CCDC6/PDGFB
t(5;11)(q31;q23) KMT2A/ARHGAP26
t(5;11)(q33;p13) CAPRIN1/PDGFRB
t(5;12)(q31;p13) ETV6/ACSL6 in MDS,AML and AEL
t(5;12)(q33;p13) ETV6/PDGFRB
t(5;12)(q33;q24) GIT2/PDGFRB
t(5;14)(q33;q24) NIN/PDGFRB
t(5;14)(q33;q32) PDGFRB/CCDC88C
t(5;15)(q33;q22) TP53BP1/PDGFRB
t(5;9)(q32;p24) KANK1/PDGFRB
t(6;20)(q13;q12) LMBRD1/CHD6
t(7;11)(p15;p15) NUP98/HOXA9
t(7;14)(q21;q13)
t(7;17)(p15;q23) MSI2/HOXA9
t(7;17)(q32-34;q23) MSI2/?
t(7;8)(q34;p11) TRIM24/FGFR1
t(8;12)(p12;p11) FGFR1OP2/FGFR1
t(8;12)(p12;q15) CPSF6/FGFR1
t(8;12)(q22;q13) HMGA2/?
t(8;14)(q11;q32) IGH/CEBPD
t(8;17)(p11;q23) MYO18A/FGFR1
t(8;17)(p11;q25) ?/FGFR1
t(8;17)(q13;q23)
t(8;22)(p11;q11) BCR/FGFR1
t(8;9)(p12;q33) CNTRL/FGFR1
t(9;11)(p22;p15) NUP98/PSIP1
t(9;12)(p24;p13) ETV6/JAK2
t(9;12)(q34;p13) ETV6/ABL1
t(9;14)(q33;q32) IGH/LHX2
t(9;22)(p24;q11.2)
t(9;22)(q34;q11) BCR/ABL1 in CML
t(X;20)(q13;q13.3)
t(X;21)(p11;q22) RUNX1/?
t(Y;1)(q12;q12)

2. Myelodysplastic Syndromes (MDS)

+11 or trisomy 11 (solely) KMT2A
+13 or trisomy 13
+14 or trisomy 14 (solely)
+15 or trisomy 15 (as sole autosomal abnormality)
+16 or trisomy 16 (solely)
+18 or trisomy 18 in lymphoproliferative disorders
+20 or trisomy 20 (solely)
+21 or trisomy 21
+6 or trisomy 6
+7 or trisomy 7 (solely)
+8 or trisomy 8
+9 or trisomy 9
-21 or monosomy 21 (solely)
-7/del(7q) in adults
-7/del(7q) in childhood
11q23 rearrangements (KMT2A) in leukaemia
12p abnormalities in myeloid malignancies
1q translocations (unbalanced) in myeloid malignancies
1q triplication in hematologic malignancies
3q26 rearrangements (MECOM) in myeloid malignancies
Atypical Chronic Myeloid Leukemia (aCML)
Childhood myelodysplastic syndromes
Classification of myelodysplasic syndromes 1999
Congenital leukaemias
Infant leukaemias
Isolated tetrasomy 8 in AML, MDS and MPD
MLL amplification in leukemia
Monosomal karyotype (MK) in myeloid malignancies
Neonatal leukaemias
Refractory anemia (RA)
Refractory anemia with excess blasts (RAEB)
Refractory anemia with ringed sideroblasts (RARS)
Trisomy 19
Trisomy 2
Unbalanced whole-arm translocation der(1;10)(q10-q11;p10-p12)
Unbalanced whole-arm translocation der(1;13) in hematologic malignancies
Y loss in leukemia
del (13q)
del(13q) in myeloid malignancies
del(16)(q22) CBFB/MYH11
del(17p) in myeloid malignancies
del(20q) in myeloid malignancies
del(21)(q21q22) USP16/RUNX1
del(5q) in myeloid neoplasms
del(9q) solely
der(11)t(1;11)(q11-23;q14-25)
der(12)t(1;12)(q11-21;p11-13)
der(18)t(1;18)(q10-25;q11-23)
der(1;14)(p10 or q10;p10 or q10)
der(1;7)(q10;p10)
der(1;9)(q10;p10)
der(20)t(1;20)(q10-21;q11-13)
der(5)t(1;5)(q12-q25;q13-q35)
der(9)t(1;9)(q11-12;q34)
dic(17;20)(p11.2;q11.2)
dic(1;15)(p11;p11)
i(17q) solely in myeloid malignancies
i(5)(p10) in acute myeloid leukemia
ider(20q) in Myeloid Malignancies
idic(X)(q13)
ins(3;3)(q26;q21q26) RPN1/MECOM
inv(11)(p15q22) NUP98/DDX10
inv(11)(q21q23) KMT2A/MAML2 in therapy related leukemias
inv(12)(p13q15) ETV6/PTPRR
inv(16)(p13q22) CBFB/MYH11
inv(18)(p11q21)
inv(3)(q21q26) RPN1/MECOM
inv(6)(p15q13)
inv(6)(p25q13)
t(10;12)(q24;p13) ETV6/GOT1
t(10;16)(q22;p13) KAT6B/CREBBP
t(11;11)(p15;q22) NUP98/DDX10
t(11;14)(p15;q22) AP2A2/NID2
t(11;16)(q23;p13.3) KMT2A/CREBBP
t(11;17)(p15;q21) NUP98/?
t(11;17)(q23;q25) KMT2A/SEPT9
t(11;20)(p15;q11) NUP98/TOP1
t(11;21)(q13;q22) RUNX1/MACROD1
t(11;22)(q13;q13) HRASLS5/PHF21B
t(12;12)(p13;q13) ETV6/BAZ2A
t(12;12)(p13;q13) HMGA2/?
t(12;13)(p12;q12-14) ETV6/CDX2
t(12;13)(p13;q14) LIN00598/ETV6
t(12;14)(q13;q31) HMGA2/?
t(12;17)(p13;p13) ETV6/PER1
t(12;18)(p13;q12) ETV6/SETBP1
t(12;20)(q15;q11.2) HMGA2 truncated
t(12;22)(p13;q12) MN1/ETV6
t(14;21)(q22;q22) RUNX1/?
t(15;21)(q22;q22) RUNX1/?
t(16;16)(p13;q22) CBFB/MYH11
t(16;21)(q24;q22) RUNX1/CBFA2T3
t(1;11)(p32;q23) KMT2A/EPS15
t(1;12)(p36;p13) ETV6/MDS2
t(1;12)(q21;p13) ETV6/ARNT
t(1;12)(q21;q24)
t(1;16)(q11;q11)
t(1;18)(q10;q10)
t(1;19)(p13;p13.1)
t(1;2)(p36;p21) PRDM16 and LINC00982/?
t(1;21)(p36;q22) RUNX1/PRDM16
t(1;3)(p36;p21)
t(1;3)(p36;q21) PSMD2/PRDM16
t(1;6)(p36;p21)
t(20;21)(q13.2;q22.12) ZFP64/RUNX1
t(20;21)(q13;q22) RUNX1/?
t(2;11)(p21;q23) KMT2A/?
t(2;11)(q31;p15) NUP98/HOXD11
t(2;11)(q31;p15) NUP98/HOXD13
t(2;12)(q31;p13) ETV6/?
t(2;3)(p15-23;q26-27) ?/MECOM
t(2;4)(p23;q25-q35)
t(2;8)(q12;p11) RANBP2/FGFR1
t(3;11)(p25;p15) ANKRD28/NUP98
t(3;11)(q12;p15) NUP98/LNP1
t(3;12)(q26;p13) ETV6/EVI1
t(3;12)(q26;p13) ETV6/MECOM
t(3;16)(q21;q22)
t(3;18)(q26;q11) ?/MECOM
t(3;21)(q26;q22) RUNX1/MECOM
t(3;3)(p24;q26) ?/MECOM
t(3;3)(q21;q26) RPN1/MECOM
t(3;4)(p21;q34)
t(3;5)(q21;q31)
t(3;5)(q25;q34) NPM1/MLF1
t(3;8)(q26;q24) PVT1/MECOM
t(4;11)(p12;q23) KMT2A/FRYL
t(4;5)(q31;q31)
t(5;11)(q31;q23) KMT2A/ARHGAP26
t(5;12)(q13;p13) ?/ETV6
t(5;12)(q31;p13) ETV6/ACSL6 in MDS,AML and AEL
t(5;12)(q33;p13) ETV6/PDGFRB
t(5;16)(q32;p13) NDE1/PDGFRB
t(5;17)(q33;p11.2) SPECC1/PDGFRB
t(5;17)(q33;p13) RABEP1/PDGFRB
t(5;21)(q13;q22) RUNX1/?
t(5;7)(q33;q11) HIP1/PDGFRB
t(6;12)(p21;p13) CCND3/ETV6 in lymphoid malignancies
t(6;20)(q13;q12) LMBRD1/CHD6
t(6;21)(p22;q22) RUNX1-?
t(6;8)(q27;p12) FGFR1OP/FGFR1
t(6;9)(p22;q34) DEK/NUP214
t(7;12)(p12;q13) HMGA2 truncated
t(7;12)(q36;p13) MNX1/ETV6
t(8;12)(q12;p13)
t(8;12)(q22;q13) HMGA2/?
t(8;13)(p11;q12) ZMYM2/FGFR1
t(8;21)(q23;q22) RUNX1/ZFPM2
t(8;9)(p22;p24) PCM1/JAK2
t(9;12)(p24;p13) ETV6/JAK2
t(9;12)(q22;p12) ETV6/SYK
t(9;12)(q34;p13) ETV6/ABL1
t(X;20)(q13;q13.3)
t(Y;1)(q12;q12)

3. Treatment Related Leukaemias (t-AML)

+11 or trisomy 11 (solely) KMT2A
+20 or trisomy 20 (solely)
+4 or trisomy 4
+8 or trisomy 8
-7/del(7q) in adults
-7/del(7q) in childhood
11p15 rearrangements (NUP98) in treatment related leukemia
11q23 rearrangements (KMT2A) in leukaemia
11q23 rearrangements (KMT2A) in therapy related leukaemias
12p abnormalities in myeloid malignancies
12p13 rearrangements (ETV6) in treatment related leukemia
21q22 rearrangements (RUNX1) in treatment related leukemia
3q21q26 rearrangements (RPN1/MECOM) in treatment related leukemia
Biphenotypic Acute Leukaemia (BAL)
Childhood myelodysplastic syndromes
Classification of acute myeloid leukemias
Classification of myelodysplasic syndromes 1999
MLL amplification in leukemia
del(13q) in myeloid malignancies
del(16)(q22) CBFB/MYH11
del(17p) in myeloid malignancies
del(5q) in myeloid neoplasms
der(1;7)(q10;p10)
der(5)t(1;5)(q12-q25;q13-q35)
dic(17;20)(p11.2;q11.2)
ins(3;3)(q26;q21q26) RPN1/MECOM
inv(11)(q21q23) KMT2A/MAML2 in therapy related leukemias
inv(16)(p13q22) CBFB/MYH11
inv(16)(p13q22) CBFB/MYH11 in treatment related leukemia
inv(3)(q21q26) RPN1/MECOM
inv(6)(p15q13)
t(10;11)(p12;q23) KMT2A/MLLT10
t(11;11)(q13;q23) KMT2A/ARHGEF17
t(11;12)(p15;q13) NUP98/?
t(11;12)(q23;q13) /HMGA2
t(11;14)(q23;q32) KMT2A/CEP170B
t(11;15)(q23;q14) KMT2A/CASC5
t(11;16)(q23;p13.3) KMT2A/CREBBP
t(11;17)(p15;q21) NUP98/?
t(11;17)(q23;p13) KMT2A/GAS7
t(11;17)(q23;q25) KMT2A/SEPT9
t(11;19)(q23;p13.1) KMT2A/ELL
t(11;19)(q23;p13.3) KMT2A/MLLT1
t(11;20)(p15;q11) NUP98/TOP1
t(11;22)(q23;q13) KMT2A/EP300
t(12;13)(p13;q14) LIN00598/ETV6
t(12;21)(q24;q22) RUNX1/?
t(14;21)(q22;q22) RUNX1/?
t(15;17)(q22;q21) in treatment related leukemia
t(15;17)(q24;q21) PML/RARA
t(15;21)(q22;q22) RUNX1/?
t(16;16)(p13;q22) CBFB/MYH11
t(16;21)(q24;q22) RUNX1/CBFA2T3
t(17;21)(q11.2;q22) RUNX1/?
t(18;21)(q21;q22) RUNX1/?
t(19;21)(q13.4;q22) RUNX1 truncated
t(1;11)(q23;p15) NUP98/PRRX1
t(1;12)(q21;q24)
t(1;21)(p22;q22) RUNX1/CLCA2
t(1;21)(p36;q22) RUNX1/PRDM16
t(1;3)(p36;p21)
t(1;3)(p36;q21) PSMD2/PRDM16
t(1;6)(p36;p21)
t(1;7)(p36;q34)
t(2;11)(q31;p15) NUP98/HOXD11
t(2;11)(q31;p15) NUP98/HOXD13
t(2;11)(q37;q23) KMT2A/SEPT2
t(2;19)(p11;p13)
t(2;3)(p15-23;q26-27) ?/MECOM
t(2;8)(p23;p11) KAT6A/ASXL2
t(2;9)(q12;q34) RANBP2/ABL1
t(3;11)(p21;q23) KMT2A/NCKIPSD
t(3;11)(q25;q23) KMT2A/GMPS
t(3;11)(q28;q23) KMT2A/LPP
t(3;12)(q26;q21) ?/MECOM
t(3;17)(q26;q22) ?/MECOM
t(3;21)(q26;q22) RUNX1/MECOM
t(3;21)(q26;q22) RUNX1/MECOM in treatment related leukemia
t(3;3)(q21;q26) RPN1/MECOM
t(3;6)(q25;q26) ?/MECOM
t(4;11)(p12;q23) KMT2A/FRYL
t(4;11)(q21;q23) KMT2A/AFF1
t(4;12)(q12;p13) CHIC2/ETV6
t(5;11)(q31;q23) KMT2A/ARHGAP26
t(6;11)(q27;q23) KMT2A/MLLT4
t(6;21)(p22;q22) RUNX1-?
t(6;9)(p22;q34) DEK/NUP214
t(8;16)(p11;p13) KAT6A/CREBBP in treatment related leukemia
t(8;21)(q22;q22) RUNX1/RUNX1T1
t(8;21)(q22;q22) RUNX1/RUNX1T1 in treatment related leukemia
t(9;11)(p21;q23) KMT2A/MLLT3
t(9;21)(p22;q22)
t(9;22)(q34;q11) BCR/ABL1 in treatment related leukemia

4. Acute Myeloid Leukaemias (AML)

+10 or trisomy 10 (solely)
+11 or trisomy 11 (solely) KMT2A
+13 or trisomy 13
+13,+13 or tetrasomy 13
+14 or trisomy 14 (solely)
+15 or trisomy 15 (as sole autosomal abnormality)
+16 or trisomy 16 (solely)
+18 or trisomy 18 in lymphoproliferative disorders
+21 or trisomy 21
+22 or trisomy 22 (solely?)
+4 or trisomy 4
+6 or trisomy 6
+7 or trisomy 7 (solely)
+8 or trisomy 8
+9 or trisomy 9
-21 or monosomy 21 (solely)
-7/del(7q) in adults
-7/del(7q) in childhood
11q23 rearrangements (KMT2A) in de novo childhood acute myeloid leukemia
11q23 rearrangements (KMT2A) in leukaemia
12p abnormalities in myeloid malignancies
15q13-15 Rearrangements
1q translocations (unbalanced) in myeloid malignancies
1q triplication in hematologic malignancies
3q26 rearrangements (MECOM) in myeloid malignancies
Acute Erythroid leukaemias
Acute basophilic leukemia
Acute megakaryoblastic leukemia (AMegL)
Acute promyelocytic leukemia (APL)
Biphenotypic Acute Leukaemia (BAL)
Classification of acute myeloid leukemias
Congenital leukaemias
Infant leukaemias
Isolated tetrasomy 8 in AML, MDS and MPD
M0 acute myeloid leukemia (M0-AML)
M3/M3v acute myeloid leukemia (AML M3/M3v)
M7 acute myeloid leukemia (M7-AML)
MLL amplification in leukemia
Monosomal karyotype (MK) in myeloid malignancies
Neonatal leukaemias
Systemic mast cell disease (SMCD)
Trisomy 19
Trisomy 2
Trisomy 5
Unbalanced whole-arm translocation der(1;10)(q10-q11;p10-p12)
Unbalanced whole-arm translocation der(1;13) in hematologic malignancies
Y loss in leukemia
del (13q)
del(11)(q23q23) KMT2A/ARHGEF12
del(11)(q23q23) KMT2A/CBL
del(16)(q22) CBFB/MYH11
del(17)(q21q24) PRKAR1A/RARA
del(17p) in myeloid malignancies
del(20q) in myeloid malignancies
del(21)(q21q22) USP16/RUNX1
del(4)(q12q12) FIP1L1/PDGFRA
del(5q) in myeloid neoplasms
del(9q) solely
der(11)t(1;11)(q11-23;q14-25)
der(12)t(1;12)(q11-21;p11-13)
der(18)t(1;18)(q10-25;q11-23)
der(1;14)(p10 or q10;p10 or q10)
der(1;7)(q10;p10)
der(1;9)(q10;p10)
der(20)t(1;20)(q10-21;q11-13)
der(5)t(1;5)(q12-q25;q13-q35)
der(9)t(1;9)(q11-12;q34)
dic(17;20)(p11.2;q11.2)
dic(1;15)(p11;p11)
dup(17)(q12q21) STAT5B/RARA
i(5)(p10) in acute myeloid leukemia
i(8)(q10) in acute myeloid leukaemia
ider(20q) in Myeloid Malignancies
idic(7)(q11.2)
idic(X)(q13)
ins(3;3)(q26;q21q26) RPN1/MECOM
ins(X;11)(q26;q23q23)
inv(11)(p15q22) NUP98/DDX10
inv(12)(p13q15) ETV6/PTPRR
inv(14)(q11q32.1) TRA-TRD/TCL1A
inv(16)(p13q22) CBFB/MYH11
inv(16)(p13q24) CBFA2T3/GLIS2
inv(2)(p23q13) RANBP2/ALK
inv(3)(q21q26) PSMD2/MECOM
inv(3)(q21q26) RPN1/MECOM
inv(6)(p25q13)
inv(8)(p11q13) KAT6A/NCOA2
t(10;11)(p11.2;q23) KMT2A/ABI1
t(10;11)(p12;q23) KMT2A/MLLT10
t(10;11)(p12;q23) KMT2A/NEBL
t(10;11)(p13;q21) PICALM/MLLT10
t(10;11)(q22;q23) KMT2A/TET1
t(10;16)(q22;p13) KAT6B/CREBBP
t(10;17)(p15;q21) ZMYND11/MBTD1
t(11;11)(p15;q22) NUP98/DDX10
t(11;11)(q23;q23) KMT2A/CBL
t(11;12)(p15;p13) NUP98/KDM5A
t(11;12)(q23;q13) KMT2A/SARNP
t(11;14)(q23;q24) KMT2A/GPHN
t(11;15)(q23;q14) KMT2A/ZFYVE19
t(11;16)(q23;p13.3) KMT2A/CREBBP
t(11;17)(p15;p13) NUP98/PHF23
t(11;17)(p15;q21) NUP98/?
t(11;17)(q13;q21) NUMA1/RARA
t(11;17)(q23;p13) KMT2A/GAS7
t(11;17)(q23;q12) KMT2A/RARA
t(11;17)(q23;q12-21) KMT2A/LASP1
t(11;17)(q23;q12-21) KMT2A/MMLT6
t(11;17)(q23;q21) ZBTB16/RARA
t(11;17)(q23;q25) KMT2A/SEPT9
t(11;19)(q23;p13) KMT2A/SH3GL1
t(11;19)(q23;p13.1) KMT2A/ELL
t(11;19)(q23;p13.3) KMT2A/MLLT1
t(11;20)(p15;q11) NUP98/TOP1
t(11;21)(p14;q22) RUNX1/KIAA1549L
t(11;21)(q13;q22) RUNX1/MACROD1
t(11;21)(q21;q22) RUNX1/LPXN
t(11;22)(q13;q13) HRASLS5/PHF21B
t(11;22)(q23;q11.2) KMT2A/SEPT5
t(12;12)(p13;q13) ETV6/BAZ2A
t(12;13)(p12;q12-14) ETV6/CDX2
t(12;13)(p13;q14) LIN00598/ETV6
t(12;15)(p13;q25) ETV6/NTRK3
t(12;17)(p11;q11) in AML
t(12;17)(p13;p13) ETV6/PER1
t(12;17)(p13;q11) TAF15/ZNF384
t(12;18)(p13;q12) ETV6/SETBP1
t(12;19)(q13;q13)
t(12;21)(q12;q22) RUNX1 truncated
t(12;22)(p13;q12) EWSR1/ZNF384
t(12;22)(p13;q12) MN1/ETV6
t(14;14)(q11;q32.1) TRA-TRD/TCL1A
t(14;22)(q32;q11) IGH/IGL
t(15;17)(q24;q21) PML/RARA
t(16;16)(p13;q22) CBFB/MYH11
t(16;21)(p11;q22) FUS/ERG
t(16;21)(q24;q22) RUNX1/CBFA2T3
t(17;17)(q21;q21) STAT5B/RARA
t(17;17)(q21;q24) PRKAR1A/RARA
t(17;21)(q11.2;q22) RUNX1/?
t(1;11)(p32;q23) KMT2A/EPS15
t(1;11)(q21;q23) KMT2A/MLLT11
t(1;12)(q21;q24)
t(1;12)(q25;p13) ETV6/ABL2
t(1;14)(q25;q32) IGH/LHX4
t(1;16)(q12;q24)
t(1;18)(q25;q23)
t(1;19)(p13;p13.1)
t(1;19)(q23;p13) TCF3/PBX1
t(1;2)(q12;q37) in acute leukemias
t(1;21)(p32;q22) RUNX1/?
t(1;21)(p35;q22) RUNX1/YTHDF2
t(1;21)(p36;q22) RUNX1/PRDM16
t(1;21)(q12;q22) RUNX1/?
t(1;21)(q21;q22) RUNX1/ZNF687
t(1;22)(p13;q13) RBM15/MKL1
t(1;3)(p36;p21)
t(1;3)(p36;q21) PSMD2/PRDM16
t(1;7)(p36;q34)
t(1;8)(p22-p32;q22-q23)
t(20;21)(q11;q22) RUNX1/?
t(20;21)(q13;q22) RUNX1/?
t(2;11)(p21;q23) KMT2A/?
t(2;11)(q31;p15) NUP98/HOXD11
t(2;11)(q31;p15) NUP98/HOXD13
t(2;11)(q33;q23) KMT2A/ABI2
t(2;11)(q37;q23) KMT2A/SEPT2
t(2;14)(p13-16;q32) IGH/BCL11A
t(2;19)(p11;p13)
t(2;2)(p23;q13) RANBP2/ALK
t(2;21)(p11;q22) RUNX1/?
t(2;3)(p15-23;q26-27) ?/MECOM
t(2;3)(p16;q26) BCL11A/MECOM
t(2;3)(p21;q26) THADA/MECOM
t(2;4)(p23;q25-q35)
t(3;11)(p25;p15) ANKRD28/NUP98
t(3;11)(q12;p15) NUP98/LNP1
t(3;11)(q13.13;q23) KMT2A/KIAA1524
t(3;12)(q26;p13) ETV6/EVI1
t(3;12)(q26;p13) ETV6/MECOM
t(3;16)(q21;q22)
t(3;17)(q26;q22) ?/MECOM
t(3;21)(p12;q22) RUNX1/?
t(3;21)(q26;q22) RUNX1/MECOM
t(3;3)(q21;q26) RPN1/MECOM
t(3;4)(p21;q34)
t(3;5)(p21;q32) RBM6/CSF1R
t(3;5)(q21;q31)
t(3;5)(q25;q34) NPM1/MLF1
t(3;5)(q26;q34) ?/MECOM
t(3;6)(q25;q26) ?/MECOM
t(3;7)(q26;q21) MECOM/CDK6
t(3;8)(q21;q24) in myeloid malignancies
t(3;8)(q26;q24) PVT1/MECOM
t(4;11)(q21;q23) KMT2A/AFF1
t(4;11)(q23;p15) NUP98/RAP1GDS1
t(4;11)(q35;q23) KMT2A/SORBS2
t(4;12)(q12;p13) CHIC2/ETV6
t(4;17)(q12;q21) FIP1L1/RARA
t(4;21)(q31;q22) RUNX1/SH3D19
t(4;5)(q31;q31)
t(5;11)(q31;q23) KMT2A/ARHGAP26
t(5;11)(q35;p15.5) NUP98/NSD1
t(5;11)(q35;q12) NSD1/FEN1
t(5;12)(p13;p13) NIPBL/ETV6
t(5;12)(q13;p13) ?/ETV6
t(5;12)(q31;p13) ETV6/ACSL6 in MDS,AML and AEL
t(5;12)(q33;p13) ERC1/PDGFRB
t(5;14)(q33;q32) PDGFRB/TRIP11
t(5;14)(q35;q11) TRD/NKX2-5
t(5;16)(q33;q22)
t(5;17)(q35;q21) NPM1/RARA
t(5;21)(q13;q22) RUNX1/?
t(6;11)(q13;q23) KMT2A/SMAP1
t(6;11)(q15;q23) KMT2A/?
t(6;11)(q21;q23) KMT2A/FOXO3
t(6;11)(q27;q23) KMT2A/MLLT4
t(6;14)(q25-27;q32) BCL11B/?
t(6;20)(q13;q12) LMBRD1/CHD6
t(6;22)(p21;q11)
t(6;8)(q27;p12) FGFR1OP/FGFR1
t(6;9)(p22;q34) DEK/NUP214
t(7;11)(p15;p15) NUP98/HOXA9
t(7;12)(q36;p13) MNX1/ETV6
t(7;14)(q21;q13)
t(7;14)(q22;q11)
t(7;14)(q35;q32.1) TRB/TCL1A
t(7;17)(q11;q21) GTF2I/RARA in APL
t(7;21)(p15;q22) RUNX1/?
t(7;21)(p22;q22) RUNX1/USP42
t(7;8)(q34;p11) TRIM24/FGFR1
t(8;11)(p11;p15) NUP98/WHSC1L1
t(8;11)(p12;p15) ?/FGFR1
t(8;12)(q12;p13)
t(8;12)(q13;p13) ETV6/NCOA2
t(8;16)(p11;p13) KAT6A/CREBBP
t(8;19)(p11;q13) ERVK-6/FGFR1
t(8;19)(p11;q13) KAT6A/?
t(8;20)(p11;q13) KAT6A/NCOA3
t(8;21)(q22;q22) RUNX1/RUNX1T1
t(8;21)(q24;q22) RUNX1/TRPS1
t(8;22)(p11;q13) KAT6A/EP300
t(8;9)(p22;p24) PCM1/JAK2
t(9;11)(p21;q23) KMT2A/MLLT3
t(9;11)(p22;p15) NUP98/PSIP1
t(9;11)(q34;p15) NUP98/PRRX2
t(9;11)(q34;q23) FNBP1/KMT2A
t(9;11)(q34;q23) KMT2A/DAB2IP
t(9;12)(q34;p13) ETV6/ABL1
t(9;21)(q34;q22) RUNX1 truncated
t(9;22)(q34;q11) BCR/ABL1 in AML
t(9;9)(q34;q34) SET/NUP214
t(X;10)(p10;p10)
t(X;11)(q13;q23) KMT2A/FOXO4
t(X;11)(q22;q23) KMT2A/?
t(X;11)(q24;q23) KMT2A/SEPT6
t(X;11)(q26;q23)
t(X;17)(p11;q21) BCOR/RARA
t(X;21)(p22;q22) RUNX1/RPL22
t(X;21)(q26;q22) ELF4/ERG
t(X;6)(p11;q23) MYB/GATA1

5. B-Cell Acute Lymphocytic Leukaemias (B-ALL)

+10 or trisomy 10 (solely)
+13 or trisomy 13
+15 or trisomy 15 (as sole autosomal abnormality)
+16 or trisomy 16 (solely)
+18 or trisomy 18 in lymphoproliferative disorders
+21 or trisomy 21
+4 or trisomy 4
+6 or trisomy 6
+8 or trisomy 8
+9 or trisomy 9
-21 or monosomy 21 (solely)
11q23 rearrangements (KMT2A) in childhood acute lymphoblastic leukemia
11q23 rearrangements (KMT2A) in leukaemia
12p rearrangements (ETV6) in ALL
15q13-15 Rearrangements
9p Rearrangements in ALL
Biphenotypic Acute Leukaemia (BAL)
Congenital leukaemias
High hyperdiploid acute lymphoblastic leukaemia
Infant leukaemias
Near haploid acute lymphoblastic leukaemia
Neonatal leukaemias
Severe hypodiploid acute lymphoblastic leukaemia
Trisomy 5
del(13q) in ALL
del(6q) abnormalities in lymphoid malignancies
del(9)(p13p24) PAX5/JAK2
der(11)t(1;11)(q11-23;q14-25)
der(18)t(1;18)(q10-25;q11-23)
der(1;14)(p10 or q10;p10 or q10)
der(1;7)(q10;p10)
der(1;9)(q10;p10)
der(20)t(1;20)(q10-21;q11-13)
der(5)t(1;5)(q12-q25;q13-q35)
dic(3;9)(p14;p13) PAX5/FOXP1
dic(7;9)(p11-12;p12-13) PAX5/LOC392027
dic(7;9)(p11-13;p11)
dic(9;12)(p13;p12) PAX5/SLCO1B3
dic(9;12)(p13;p13) PAX5/ETV6
dic(9;16)(p13;q11) PAX5/?
dic(9;17)(p13;q11) PAX5/TAOK1
dic(9;18)(p13;q11) PAX5/ZNF521
dic(9;20)(p11-13;q11) PAX5/Various
dup(21q) amplified (RUNX1)
i(6)(p10)
i(9q) in ALL
ins(5;11)(q31;q13q23) KMT2A/AFF4
ins(X;11)(q26;q23q23)
inv(11)(q13q23) KMT2A/BTBD18
inv(14)(q11q32) CEBPE/IGH
inv(14)(q11q32.1) TRA-TRD/TCL1A
inv(19)(p13q13) TCF3/TFPT
inv(9)(p13p24) PAX5/JAK2
t(10;11)(p12;q23) KMT2A/MLLT10
t(10;11)(p13;q21) PICALM/MLLT10
t(10;11)(q22;q23) KMT2A/TET1
t(11;14)(q24;q32) IGH/MIR125B1
t(11;16)(q23;p13.3) KMT2A/CREBBP
t(11;17)(q23;p13) KMT2A/GAS7
t(11;17)(q23;q25) KMT2A/SEPT9
t(11;19)(q23;p13.3) KMT2A/ACER1
t(11;19)(q23;p13.3) KMT2A/MLLT1
t(11;20)(q23;q11) KMT2A/MAPRE1
t(12;12)(p13;q13) ETV6/BAZ2A
t(12;13)(p12;q12-14) ETV6/CDX2
t(12;13)(p13;q14) LIN00598/ETV6
t(12;14)(p13;q32) IGH/ETV6
t(12;17)(p13;q11) TAF15/ZNF384
t(12;17)(p13;q11-21) in ALL
t(12;19)(p13;p13) TCF3/ZNF384
t(12;21)(p13;q22) ETV6/RUNX1
t(12;22)(p13;q12) EWSR1/ZNF384
t(13;19)(q14;p13) TCF3/?
t(14;14)(q11;q32) CEBPE/IGH
t(14;14)(q11;q32.1) TRA-TRD/TCL1A
t(14;17)(q32;q21) IGH/IGF2BP1
t(14;18)(q32;q21) IGH/BCL2
t(14;19)(q32;q13) IGH/CEBPA
t(14;20)(q32;q13) IGH/CEBPB
t(17;19)(q22;p13) TCF3/HLF
t(18;22)(q21;q11) IGL/BCL2
t(19;19)(p13;q13) TCF3/TFPT
t(1;11)(p32;q23) KMT2A/EPS15
t(1;14)(q21;q32)
t(1;14)(q21;q32) BCL9/IGH
t(1;14)(q25;q32) IGH/LHX4
t(1;18)(q25;q23)
t(1;19)(q23;p13) TCF3/PBX1
t(1;2)(q12;q37) in acute leukemias
t(1;22)(q21;q11)
t(1;22)(q21;q11) IGL/BCL9
t(1;3)(p36;p21)
t(1;5)(q22;q33) PDE4DIP/PDGFRB
t(1;9)(p13;p12) PAX5/HIPK1
t(1;9)(p34;q34) SFPQ/ABL1
t(1;9)(q24;q34) RCSD1/ABL1
t(2;11)(p21;q23) KMT2A/?
t(2;14)(p13-16;q32) IGH/BCL11A
t(2;18)(p11;q21) IGK/BCL2
t(2;8)(p12;q24) IGK/MYC
t(2;9)(p11;p13) PAX5/?
t(2;9)(q37;q34) INPP5D-ABL1
t(3;11)(q21;q23) KMT2A/EEFSEC
t(4;11)(p12;q23) KMT2A/FRYL
t(4;11)(q21;q23) KMT2A/AFF1
t(4;12)(q12;p13) CHIC2/ETV6
t(5;11)(q31;q23) KMT2A/ARHGAP26
t(5;12)(q33;p13) ATF7IP/PDGFRB
t(5;14)(q31;q32) IGH/IL3
t(5;15)(p15;q11)
t(5;9)(q14.1;p24) SSBP2/JAK2
t(6;11)(q21;q23) KMT2A/FOXO3
t(6;12)(p21;p13) CCND3/ETV6 in lymphoid malignancies
t(6;14)(p22;q32) IGH/ID4
t(6;14)(q25-27;q32) BCL11B/?
t(6;22)(p21;q11)
t(7;12)(q36;p13) MNX1/ETV6
t(7;14)(q35;q32.1) TRB/TCL1A
t(7;15)(q22;q14) CUX1/NUTM1 a novel fusion
t(7;9)(q11.2;p13.2) PAX5/AUTS2
t(7;9)(q11;p12) PAX5/POM121
t(7;9)(q11;p13) PAX5/ELN
t(8;12)(q13;p13) ETV6/NCOA2
t(8;14)(q11;q32) IGH/CEBPD
t(8;14)(q24;q11) TRA/MYC
t(8;14)(q24;q32) IGH/MYC
t(8;22)(q24;q11) IGL/MYC
t(8;9)(p22;p24) PCM1/JAK2
t(8;9)(q24;p13) ?/MYC
t(8;9)(q24;q13)
t(9;10)(q34;q22) ZMIZ1/ABL1
t(9;12)(p24;p13) ETV6/JAK2
t(9;12)(q34;p13) ETV6/ABL1
t(9;13)(p12;q21) PAX5/DACH1
t(9;15)(p13;q24) PAX5/GOLGA6A
t(9;15)(p13;q24) PAX5/PML
t(9;17)(p13;p12) PAX5/NCOR1
t(9;22)(p13;q13) PAX5/BRD1
t(9;22)(q34;q11) BCR/ABL1 in ALL
t(9;9)(p13;p24) PAX5/JAK2
t(X;11)(q22;q23) KMT2A/?
t(X;11)(q26;q23)
t(X;9)(q21;p13) PAX5/DACH2

6. T-Cell Acute Lymphocytic Leukaemias (T-ALL)

+20 or trisomy 20 (solely)
+4 or trisomy 4
+7 or trisomy 7 (solely)
+8 or trisomy 8
+9 or trisomy 9
11q23 rearrangements (KMT2A) in childhood acute lymphoblastic leukemia
11q23 rearrangements (KMT2A) in leukaemia
12p rearrangements (ETV6) in ALL
15q13-15 Rearrangements
1p32 rearrangements
9p Rearrangements in ALL
Biphenotypic Acute Leukaemia (BAL)
NK cell neoplasias
NUP214/ABL1 fusion gene on amplified episomes
T-lineage acute lymphoblastic leukemia (T-ALL)
del(11)(p12p13) LMO2
del(13q) in ALL
del(6q) abnormalities in lymphoid malignancies
del(9q) solely
der(9)t(1;9)(q11-12;q34)
dic(9;12)(p13;p13) PAX5/ETV6
i(6)(p10)
inv(14)(q11q32.1) TRA-TRD/TCL1A
inv(7)(p15q34) TRB/HOXA10
t(10;11)(p13;q21) PICALM/MLLT10
t(10;11)(q25;p15) NUP98/ADD3
t(10;14)(q24;q11) HOX11/TRD
t(11;14)(p13;q11) TRD/LMO2
t(11;14)(p15;q11) TRD/LMO1
t(11;18)(p15;q12) NUP98/SETBP1
t(11;19)(q23;p13.3) KMT2A/MLLT1
t(12;12)(p13;q13) ETV6/BAZ2A
t(12;13)(p12;q12-14) ETV6/CDX2
t(12;14)(p13;q11) TRA or TRD/CCND2
t(14;14)(q11;q32.1) TRA-TRD/TCL1A
t(14;21)(q11;q22) TRA/OLIG2
t(1;12)(q21;p13) ETV6/ARNT
t(1;14)(p32;q11) TRA/TAL1
t(1;19)(q23;p13) TCF3/PBX1
t(1;2)(p36;p21) PRDM16 and LINC00982/?
t(1;3)(p32;p21) TCTA/TAL1
t(1;5)(p32;q31) ?/TAL1
t(1;7)(p32;q34) TRB/TAL1
t(1;7)(p34;q34) TRB/LCK
t(2;14)(p13-16;q32) IGH/BCL11A
t(2;21)(q11;q22)
t(3;11)(q12;p15) NUP98/LNP1
t(3;11)(q29;p15) NUP98/IQCG
t(4;11)(q21;p15) NUP98/RAP1GDS1
t(4;11)(q21;q23) KMT2A/AFF1
t(4;11)(q23;p15) NUP98/RAP1GDS1
t(4;21)(q31;q22) RUNX1/?
t(5;12)(q13;p13) ?/ETV6
t(5;14)(q35;q11) TRD/NKX2-5
t(5;14)(q35;q32) BCL11B/TLX3
t(5;14)(q35;q32.2) BCL11B/TLX3 and NKX2-5
t(5;17)(q13;q21)
t(5;6)(q33;q23) CEP85L/PDGFRB
t(5;7)(q35;q21) TLX3/CDK6
t(6;11)(q27;q23) KMT2A/MLLT4
t(6;7)(q23;q34) TRB/MYB and AHI1
t(7;10)(q34;q24) TRB/HOX11
t(7;11)(q35;p13) TBB/LMO2
t(7;12)(q34;p13) TRB/CCND2
t(7;14)(p15;q11) TRD/HOXA10
t(7;14)(q35;q32.1) TRB/TCL1A
t(7;19)(q34;p13) TRB/LYL1
t(7;7)(p15;q34) TRB/HOXA10
t(7;9)(q34;q32) TRB/TAL2
t(7;9)(q34;q34) TRB-NOTCH1
t(8;12)(q13;p13) ETV6/NCOA2
t(8;14)(q24;q11) TRA/MYC
t(8;21)(q24;q22) RUNX1/TRPS1
t(8;9)(p22;p24) PCM1/JAK2
t(9;12)(p24;p13) ETV6/JAK2
t(9;12)(q34;p13) ETV6/ABL1
t(9;14)(q34;q32) EML1/ABL1
t(9;22)(q34;q11) BCR/ABL1 in ALL
t(X;11)(q13;q23) KMT2A/FOXO4
t(X;7)(q22;q34) IRS4/TRB

7. Non Hodgkin Lymphomas and Chronic Lymphoproliferative Diseases (NHL and CLD)

Classification of B-cell non-Hodgkin's lymphomas (NHL)
Classification of B-cell chronic lymphoproliferative disorders (CLD)
+12 or trisomy 12
+18 or trisomy 18 in lymphoproliferative disorders
+20 or trisomy 20 (solely)
+3 or trisomy 3 in non Hodgkin's lymphoma (NHL)
+8 or trisomy 8
12p rearrangements in CLL
15q13-15 Rearrangements
1q triplication in hematologic malignancies
3q27 rearrangements (BCL6) in non Hodgkin lymphoma
ALK -positive diffuse large B-cell lymphoma
Anaplastic B-cell lymphoma
Anaplastic large cell lymphoma (ALCL)
Angioimmunoblastic T-cell lymphoma
Burkitt's lymphoma (BL)
Centroblastic lymphoma
Classification of B-cell non-Hodgkin lymphomas (NHL)
Classification of T-Cell disorders
Cutaneous T-cell lymphomas
Diffuse large cell lymphoma
Disseminated Juvenile Xanthogranuloma
Follicular lymphoma (FL)
HIV-associated lymphomas
Hepatosplenic T-cell lymphoma (HSTCL)
Hodgkin lymphoma
Immunoblastic lymphoma
Intestinal T-cell lymphoma
Lymphocyte depletion classical Hodgkin lymphoma
Lymphocyte-rich classical Hodgkin lymphoma
Lymphoepithelioid lymphoma
Lymphoplasmacytic lymphoma
Mantle cell lymphoma (incomplete)
Marginal Zone B-cell lymphoma
Mucosa-associated lymphoid tissue (MALT) lymphoma
Mycosis fungoides/Sezary's syndrome
NK cell neoplasias
Nasal T cell lymphoma
Nodular lymphocyte-predominant Hodgkin lymphoma
Peripheral T-cell lymphoma not otherwise specified (PTCL-NOS)
Primary cutaneous CD30+ anaplastic large cell lymphoma
Small lymphocytic lymphoma
T-cell large granular lymphocyte leukaemia
T-cell/histiocyte-rich large B cell lymphoma
Unbalanced whole-arm translocation der(1;13) in hematologic malignancies
Waldenstrom's macroglobulinemia (WM)
del (13q)
del(11q) in non-Hodgkin's lymphoma (NHL)
del(13q) in non-Hodgkin's lymphoma
del(17p) in non-Hodgkin's lymphoma (NHL)
del(3)(q27q27) ST6GAL1/BCL6
del(6q) abnormalities in lymphoid malignancies
del(7q) in non-Hodgkin's lymphoma (NHL)
der(12)t(1;12)(q11-21;p11-13)
der(18)t(1;18)(q10-25;q11-23)
der(1;14)(p10 or q10;p10 or q10)
der(1;7)(q10;p10)
der(1;9)(q10;p10)
der(20)t(1;20)(q10-21;q11-13)
der(5)t(1;5)(q12-q25;q13-q35)
der(9)t(1;9)(q11-12;q34)
der(9)t(1;9)(q12;q12)
dic(9;12)(p13;p13) PAX5/ETV6
ins(12;8)(p11;p12p22) FGFR1OP2/FGFR1
inv(14)(q11q32.1) TRA-TRD/TCL1A
inv(18)(p11q21)
inv(2)(p23q35) ATIC/ALK
inv(7)(p15q34) TRB/HOXA10
t(10;11)(q22;q23) KMT2A/TET1
t(10;14)(q24;q11) HOX11/TRD
t(11;14)(q13;q32) IGH/CCND1
t(11;18)(q21;q21) BIRC3/MALT1
t(12;14)(p13;q32) IGH/CCND2
t(12;22)(p13;q11) IGL/CCND2
t(14;14)(q11;q32.1) TRA-TRD/TCL1A
t(14;15)(q32;q11) IGH/NBEAP1
t(14;18)(q32;q21) IGH/BCL2
t(14;18)(q32;q21) IGH/MALT1
t(14;19)(q32;q13) IGH/BCL3
t(14;22)(q32;q11) IGH/IGL
t(18;22)(q21;q11) IGL/BCL2
t(19;22)(q13;q11) BCL3/IGL
t(1;1)(p36;q21) in Non Hodgkin Lymphoma
t(1;13)(q32;q14)
t(1;14)(p22;q32) IGH/BCL10
t(1;14)(q21;q32)
t(1;14)(q21;q32) BCL9/IGH
t(1;14)(q21;q32) FCGR2B/IGH
t(1;14)(q21;q32) FCRL4/IGH
t(1;14)(q21;q32) MUC1/IGH
t(1;16)(q11;q11)
t(1;19)(q23;p13) TCF3/PBX1
t(1;2)(p22;p12) IGK/BCL10
t(1;2)(q25;p23) TPM3/ALK
t(1;22)(q21;q11)
t(1;22)(q21;q11) IGL/BCL9
t(1;3)(p36;p21)
t(1;3)(q25;q27) GAS5/BCL6
t(1;7)(q21;q22)
t(1;8)(p22-p32;q22-q23)
t(2;12)(p12;p13) IGK/CCND2
t(2;12)(q31;p13) ETV6/?
t(2;14)(p13-16;q32) IGH/BCL11A
t(2;17)(p23;q23) CLTC/ALK
t(2;17)(p23;q25) RNF213/ALK
t(2;18)(p11;q21) IGK/BCL2
t(2;18)(q11;q21) AFF3/BCL2
t(2;19)(p12;q13) IGK/BCL3
t(2;19)(p23;p13) TPM4/ALK
t(2;22)(p23;q11) CLTCL1/ALK
t(2;22)(p23;q11) MYH9/ALK
t(2;3)(p12;q27) IGK/BCL6
t(2;3)(p23;q21) TFG/ALK
t(2;5)(p23;q35) NPM1/ALK
t(2;5)(p23;q35) SQSTM1/ALK
t(2;6)(p12;p25) IRF4/IGK
t(2;8)(p12;q24) IGK/MYC
t(2;8)(p15;q24) BCL11A/MYC
t(2;9)(p23;q33) TRAF1/ALK
t(3;11)(q27;q23) POU2AF1/BCL6
t(3;12)(q27;p12) LRMP/BCL6
t(3;12)(q27;p13) GAPDH/BCL6
t(3;13)(q27;q14) LCP1/BCL6
t(3;14)(p14;q32) IGH/FOXP1
t(3;14)(q21;q32)
t(3;14)(q27;q32) IGH/BCL6
t(3;16)(q27;p11) IL21R/BCL6
t(3;16)(q27;p13) CIITA/BCL6
t(3;19)(q27;q13) NAPA/BCL6
t(3;22)(q27;q11) IGL/BCL6
t(3;3)(q25;q27) MBNL1/BCL6
t(3;3)(q27;q27) ST6GAL1/BCL6
t(3;3)(q27;q28) EIF4A2/BCL6
t(3;3)(q27;q29) TFRC/BCL6
t(3;4)(q27;p13) RHOH/BCL6
t(3;6)(q27;p21)
t(3;6)(q27;p21) PIM1/BCL6
t(3;6)(q27;p21) SRSF3/BCL6
t(3;6)(q27;p22) HIST1H4I/BCL6
t(3;6)(q27;q14) SNHG5/BCL6
t(3;6)(q27;q15) ?/BCL6
t(3;7)(q27;p12) IKZF1/BCL6
t(3;7)(q27;q32) FRA7H/BCL6
t(3;7)(q27;q32) MIR29A/BCL6
t(3;8)(q27;q24) BCL6/MYC
t(3;9)(q26;p23) ?/MECOM
t(3;9)(q27;p13) GRHPR/BCL6
t(3;9)(q27;p24) DMRT1/BCL6
t(3;Var)(q27;Var) in non Hodgkin lymphoma
t(4;12)(p16;p13) ETV6/FGFR3
t(4;16)(q26;p13) IL2/TNFRSF17
t(5;17)(q33;p13) RABEP1/PDGFRB
t(5;9)(q33;q22) ITK/SYK
t(6;11)(q21;q23) KMT2A/FOXO3
t(6;12)(p21;p13) CCND3/ETV6 in lymphoid malignancies
t(6;14)(p25.3;q11.2) TRA/IRF4
t(6;14)(p25;q32) IRF4/IGH
t(6;20)(q15;q11.2) BACH2/BCL2L1
t(6;22)(p25;q11) IRF4/IGL
t(6;7)(p25.3;q32.3) DUSP22/FRA7H
t(6;8)(q11;q11)
t(6;8)(q27;p12) FGFR1OP/FGFR1
t(7;10)(q34;q24) TRB/HOX11
t(7;14)(q35;q32.1) TRB/TCL1A
t(7;7)(p15;q34) TRB/HOXA10
t(7;8)(p12;q24) /MYC
t(8;12)(p12;p11) FGFR1OP2/FGFR1
t(8;12)(q24;p12) LRMP/MYC
t(8;13)(p11;q12) ZMYM2/FGFR1
t(8;14)(q24;q11) TRA/MYC
t(8;14)(q24;q32) IGH/MYC
t(8;22)(q24;q11) IGL/MYC
t(8;9)(p22;p24) PCM1/JAK2
t(8;9)(q24;p13) ?/MYC
t(8;9)(q24;q13)
t(9;14)(p13;q32) PAX5/IGH
t(X;14)(p11.4;q32.33) IGH/GPR34
t(X;2)(q11;p23) MSN/ALK

Phylum and Thesaurus of Hematological malignancies (full table)

detailed descriptionICD-O3 code
Myeloproliferative neoplasms 
Chronic myelogenous leukaemia, BCR-ABL1 positive9975/3
Chronic neutrophilic leukaemia9963/3
Polycythaemia vera9950/3
Primary myelofibrosis9961/3
Essential thrombocythaemia9962/3
Chronic eosinophilic leukaemia, NOS9964/3
Cutaneous mastocytosis9740/3
Systemic mastocytosis9741/3
Mast cell leukaemia9742/3
Mast cell sarcoma9740/3
Extracutaneous mastocytoma9740/1
Myeloproliferative neoplasm, unclassifiable9975/3
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1 
Myeloid and lymphoid neoplasms with PDGFRA rearrangement9965/3
Myeloid and lymphoid neoplasms with PDGFRB rearrangement9966/3
Myeloid and lymphoid neoplasms with FGFR1 rearrangement9967/3
Myelodysplastic/myeloproliferative neoplasms 
Chronic myelomonocytic leukaemia9945/3
Atypical chronic myeloid leukaemia, BCR-ABL1 negative9876/3
Juvenile myelomonocytic leukaemia9946/3
Myelodysplastic/myeloproliferative neoplasm, unclassifiable9975/3
Refractory anemia with ring sideroblasts associated with marked thrombocytosis9982/3
Myelodysplastic syndromes 
Refractory anemia9980/3
Refractory neutropenia9991/3
Refractory thrombocytopemia9992/3
Refractory anaemia with ring sideroblasts9982/3
Refractory cytopenia with multilineage dysplasia9985/3
Refractory anaemia with excess blasts9983/3
Myelodysplastic syndrome with isolated del(5q)9986/3
Myelodysplastic syndrome, unclassifiable9989/3
Childhood myelodysplastic syndromeNS
Refractory cytopenia of childhood9985/3
Acute myeloid leukaemia (AML) and related precursor neoplasms 
AML with t(8;21)(q22;q22); RUNX1-RUNX1T19896/3
AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH119871/3
Acute promyelocytic leukaemia with t(15;17)(q22;q12); PML-RARA9866/3
AML with t(9;11)(p22;q23); MLLT3-MLL9897/3
AML with t(6;9)(p23;q34); DEK-NUP214v AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2);RPN1-EVI19865/3
AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2);RPN1-EVI19869/3
AML (megakaryoblastic) with t(1;22)(p13;q13);RBM15-MKL19911/3
AML with mutated NPM19861/3
AML with mutated CEBPA9861/3
AML with myelodysplasia-related changes9895/3
Therapy-related myeloid neoplasms9920/3
Acute myeloid leukaemia, NOS9861/3
AML with minimal differentiation9872/3
AML without maturation9873/3
AML with maturation9874/3
Acute myelomonocytic leukaemia9867/3
Acute monoblastic and monocytic leukaemia9891/3
Acute erythroid leukaemia9840/3
Acute megakaryoblastic leukaemia9910/3
Acute basophilic leukaemia9870/3
Acute panmyelosis with myelofibrosis9931/3
Myeloid sarcoma9872/3
Transient abnormal myelopoiesis9898/1
Myeloid leukaemia associated with Down syndrome9898/3
Blastic plasmacytoid dendritic cell neoplasm9727/3
Acute leukaemias of ambiguous lineage 
Acute undifferentiated leukaemia9801/3
Mixed phenotype acute leukaemia with t(9;22)(q34;q11.2); BCR-ABL19806/3
Mixed phenotype acute leukaemia with t(v;11q23); MLL rearranged9807/3
Mixed phenotype acute leukaemia, B/myeloid, NOS 1529808/3
Mixed phenotype acute leukaemia, T/myeloid, NOS 1539809/3
Mixed phenotype acute leukaemia, NOS - rare typesNS
Other ambiguous lineage leukaemiasNS
Natural killer (NK)-cell lymphoblastic leukaemia/lymphomaNS
Precursor lymphoid neoplasms 
B lymphoblastic leukaemia/lymphoma, NOS9811/3
B lymphoblastic leukaemia/lymphoma with t(9:22)(q34;q11.2); BCR-ABL19812/3
B lymphoblastic leukaemia/lymphoma with t(v;11q23); MLL rearranged9813/3
B lymphoblastic leukaemia/lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)9814/3
B lymphoblastic leukaemia/lymphoma with hyperdiploidy9815/3
B lymphoblastic leukaemia/lymphoma with hypodiploidy (Hypodiploid ALL)9816/3
B lymphoblastic leukaemia/lymphoma with t(5;14)(q31;q32); IL3-IGH9817/3
B lymphoblastic leukaemia/lymphoma with t(1;19) (q23;p13.3); E2A-PBX1(TCF3-PBX1)9818/3
T lymphoblastic leukaemia/lymphoma9837/3
Mature B-cell neoplasms 
Chronic lymphocytic leukaemia /small lymphocytic lymphoma9823/3
B-cell prolymphocytic leukaemia9833/3
Splenic marginal zone lymphoma9689/3
Hairy cell leukaemia9940/3
Splenic B-cell lymphoma/leukaemia, unclassifiable9591/3
Splenic diffuse red pulp small B-cell lymphoma9591/3
Hairy cell leukaemia-variant9591/3
Lymphoplasmacytic lymphoma9671/3
Waldenstrom macroglobulinemia9761/3
Heavy chain diseases9762/3
Gamma heavy chain disease9762/3
Mu heavy chain disease9762/3
Alpha heavy chain disease9762/3
Plasma cell neoplasms-
Monoclonal gammopathy of undetermined significance (MGUS)9765/1
Plasma cell myeloma / Multiple myeloma9732/3
Solitary plasmacytoma of bone9731/3
Extraosseous plasmacytoma9734/3
Monoclonal immunoglobulin deposition diseases-
Extranodal marginal zone lymphoma of mucosa- associated lymphoid tissue (MALT lymphoma)9699/3
Nodal marginal zone lymphoma9699/3
Paediatric nodal marginal zone lymphoma9699/3
Follicular lymphoma9690/3
Paediatric follicular lymphoma9690/3
Primary cutaneous follicle centre lymphoma9597/3
Mantle cell lymphoma9673/3
Diffuse large B-cell lymphoma (DLBCL), NOS9680/3
T cell/histiocyte-rich large B-cell lymphoma9688/3
Primary DLBCL of the CNS9680/3
Primary cutaneous DLBCL, leg type9680/3
EBV positive DLBCL of the elderly9680/3
DLBCL associated with chronic inflammation9680/3
Lymphomatoid granulomatosis9766/3
Primary mediastinal (thymic) large B-cell lymphoma9679/3
Intravascular large B-cell lymphoma9712/3
ALK positive large B-cell lymphoma9737/3
Plasmablastic lymphoma9735/3
Large B-cell lymphoma arising in HHV8-associated multicentric Castleman disease9738/3
Primary effusion lymphoma9678/3
Burkitt lymphoma9687/3
B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and Burkitt lymphoma9680/3
B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and classical Hodgkin lymphoma9596/3
Mature T- and NK-cell neoplasms 
T-cell prolymphocytic leukaemia9834/3
T-cell large granular lymphocytic leukaemia9831/3
Chronic lymphoproliferative disorder of NK cells9831/3
Aggressive NK cell leukaemia9948/3
Systemic EBV+ T-cell lymphoproliferative disease of childhood9724/3
Hydroa vacciniforme-like lymphoma9725/3
Adult T-cell leukaemia/lymphoma9827/3
Extranodal NK/T-cell lymphoma, nasal type9719/3
Enteropathy-associated T-cell lymphoma9717/3
Hepatosplenic T-cell lymphoma9716/3
Subcutaneous panniculitis-like T-cell lymphoma9708/3
Mycosis fungoides9700/3
Sèzary syndrome9701/3
Lymphomatoid papulosis9718/1
Primary cutaneous anaplasic large cell lymphoma9718/3
Primary cutaneous peripheral T-cell lymphomas, rare subtypes
Primary cutaneous gamma-delta T-cell lymphoma9726/3
Primary cutaneous CD8 positive aggressive epidermotropic cytotoxic T-cell lymphoma9709/3
Primary cutaneous CD4 positive small/medium T-cell lymphoma9709/3
Peripheral T-cell lymphoma, NOS9702/3
Angioimmunoblastic T-cell lymphoma9705/3
Anaplastic large cell lymphoma, ALK positive9714/3
Anaplastic large cell lymphoma, ALK negative9702/3
Hodgkin lymphoma 
Nodular lymphocyte predominant Hodgkin lymphoma9659/3
Classical Hodgkin lymphoma9650/3
Nodular sclerosis classical Hodgkin lymphoma9663/3
Mixed cellularity classical Hodgkin lymphoma9652/3
Lymphocyte-rich classical Hodgkin lymphoma9651/3
Lymphocyte-depleted classical Hodgkin lymphoma9653/3
Immunodeficiency-associated lymphoproliferative disorders 
Lymphoproliferative diseases associated with primary immune disordersNS
Lymphomas associated with HIV infectionNS
Plasmatic hyperplasia9971/1
Infectious mononucleosis-like PTLD9971/1
Polymorphic PTLD9971/3
Monomorphic PTLD (B- and T/NK-cell types, classified according to the leukemia/lymphomato which they correspond)-
Classical Hodgkin lymphoma type PTLD-
Histiocytic and dendritic cell neoplasms 
Histiocytic sarcoma9755/3
Langerhans cell histiocytosis9751/3
Langerhans cell sarcoma9756/3
Interdigitating dendritic cell sarcoma9757/3
Follicular dendritic cell sarcoma9758/3
Intermediate dendritic cell tumour9759/3
Disseminated juvenile xanthogranulomaN


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